Canonical Allele Identifier: CA2184878275

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208367T= , CM000677.2:g.68208367T=	GRCh38
NC_000015.9:g.68500705T= , CM000677.1:g.68500705T=	GRCh37
NC_000015.8:g.66287759T=	NCBI36
NG_008764.2:g.53845A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.709A= MANE Select	ENSP00000249806.5:p.Thr237=
ENST00000562767.2:c.84-10739A=	ENSP00000456336.1:n.84-10739A=
ENST00000563917.2:n.551A=
ENST00000565471.6:c.250A=	ENSP00000457384.1:p.Thr84=
ENST00000635747.1:c.*612A=	ENSP00000490627.1:n.*612A=
ENST00000636212.1:c.*379A=	ENSP00000489851.1:n.*379A=
ENST00000636674.1:n.1811A=
ENST00000636964.1:n.2237A=
ENST00000637054.1:c.198+10169A=	ENSP00000490807.1:n.198+10169A=
ENST00000637329.1:c.678A=
ENST00000637450.1:c.*363A=	ENSP00000490204.1:n.*363A=
ENST00000637494.1:c.421A=	ENSP00000490057.1:p.Thr141=
ENST00000637667.1:c.610A=	ENSP00000489843.1:p.Thr204=
ENST00000637823.1:c.534A=
ENST00000637888.1:c.198+10169A=	ENSP00000490546.1:n.198+10169A=
ENST00000638076.1:c.*312A=	ENSP00000490373.1:n.*312A=
ENST00000638144.1:n.352A=
ENST00000646164.1:c.39-8686A=
ENST00000249806.9:c.709A=	ENSP00000249806.5:p.Thr237=
ENST00000538696.5:c.805A=	ENSP00000445770.1:p.Thr269=
ENST00000562767.1:c.84-10739A=	ENSP00000456336.1:n.84-10739A=
ENST00000564752.1:c.*93A=	ENSP00000457822.1:n.*93A=
ENST00000565471.5:c.250A=	ENSP00000457384.1:p.Thr84=
ENST00000566347.5:c.520A=	ENSP00000457783.1:p.Thr174=
ENST00000567060.5:c.*107A=	ENSP00000454818.1:n.*107A=
NM_017882.2:c.709A=	NP_060352.1:p.Thr237=
NM_017882.3:c.709A= MANE Select	NP_060352.1:p.Thr237=